Freeman-Sheldon syndrome

MONDO:0008675

A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Also known as: Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Freeman Sheldon Syndrome, Freeman Sheldon syndrome, Freeman-Sheldon syndrome, arthrogryposis, distal, type 2A (Freeman-Sheldon), cranio-carpo-tarsal syndrome, craniocarpotarsal dysplasia

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